scholarly journals More than Just a Brain Disorder: A Five-Point Manifesto for Psychological Care for People with Huntington’s Disease

2022 ◽  
Vol 12 (1) ◽  
pp. 64
Author(s):  
Nicolò Zarotti ◽  
Maria Dale ◽  
Fiona J. R. Eccles ◽  
Jane Simpson
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Current Approach ◽  
Not Given ◽  
Psychological Care ◽  
Brain Disorder ◽  
Everyday Clinical Practice ◽  
Psychological Difficulties

Huntington’s disease (HD) is a rare and complex condition where affected individuals, family members, caregivers, and clinicians face a number of both long-term and fluctuating challenges. The predominant biomedical framework adopted in HD to date has traditionally viewed it as a brain disorder first and foremost. As a consequence, one of the most challenging aspects of the condition—psychological difficulties and their care—is often not given the emphasis it deserves in everyday clinical practice. Here, we propose a manifesto outlining five points to address the quality, effectiveness, availability, and accessibility of psychological care in HD. These include (1) Listening to People with HD, (2) Reformulating Difficulties Psychologically, (3) Exploring New Interventions, (4) Increasing Psychological Provision, and (5) Learning from Other Conditions. As the search for a cure continues, we hope that this manifesto will create a new impetus towards refining the current approach to psychological difficulties in HD and ultimately improve the quality of life of the tens of thousands of families affected by HD worldwide.

Deep brain stimulation for Huntington's disease: long-term results of a prospective open-label study

2014 ◽  
Vol 121 (1) ◽  
pp. 114-122 ◽  
Author(s):  
Victoria Gonzalez ◽  
Laura Cif ◽  
Brigitte Biolsi ◽  
Sara Garcia-Ptacek ◽  
Anne Seychelles ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Open Label ◽  
Open Label Study ◽  
Label Study ◽  
Deep Brain

Object To date, experience of globus pallidus internus (GPi) deep brain stimulation (DBS) in the treatment of Huntington's disease (HD) has been limited to a small number of case reports. The aim of this study was to analyze long-term motor outcome of a cohort of HD patients treated with GPi DBS. Methods Seven patients with pharmacologically resistant chorea and functional impairment were included in a prospective open-label study from 2008 to 2011. The main outcome measure was the motor section of the Unified Huntington's Disease Rating Scale. The primary end point was reduction of chorea. Results Patients underwent MRI-guided bilateral GPi implantation. The median duration of follow-up was 3 years. A significant reduction of chorea was observed in all patients, with sustained therapeutic effect; the mean improvement on the chorea subscore was 58.34% at the 12-month follow-up visit (p = 0.018) and 59.8% at the 3-year visit (p = 0.040). Bradykinesia and dystonia showed a nonsignificant trend toward progressive worsening related to disease evolution and partly to DBS. The frequency of stimulation was 130 Hz for all patients. DBS-induced bradykinesia was managed by pulse-width reduction or bipolar settings. Levodopa mildly improved bradykinesia in 4 patients. Regular off-stimulation tests confirmed a persistent therapeutic effect of DBS on chorea. Conclusions GPi DBS may provide sustained chorea improvement in selected HD patients with pharmacologically resistant chorea, with transient benefit in physical aspects of quality of life before progression of behavioral and cognitive disorders. DBS therapy did not improve dystonia or bradykinesia. Further studies including quality of life measures are needed to evaluate the impact of DBS in the long-term outcome of HD.

scholarly journals Management of Traumatic Ulcerations of Lips in a Case of Huntington’s Disease: A Novel Application of Essix Retainer

2021 ◽  
pp. 030157422110234
Author(s):  
Mohamed Iqbal J
Keyword(s):  
Quality Of Life ◽  
Characteristic Feature ◽  
Neurodegenerative Disease ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Complete Resolution ◽  
Psychiatric Symptoms

Huntington’s disease is a progressive neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. Dystonia of muscles is a characteristic feature of this condition. A case of Huntington’s disease, with orofacial dystonia, leading to severe uncontrolled biting of the lips, was referred by the Department of Neurology. Deep traumatic ulcerations were found in both upper and lower lips. A simple Essix retainer was fabricated and inserted, which acted as a barrier for the teeth from injuring the lips. The ulcers showed complete resolution in 3 to 4 weeks. The vacuum-formed retainers resulted in a good fit and resisted removal by the uncontrolled contortions of the orofacial muscles. The Essix retainer can be effectively used in improving the quality of life of patients, with Huntington’s disease, having such dystonia-related injuries to lips.

scholarly journals Psychometric Properties and Validation of the Polish Version of the 12-Item World Health Organization Disability Assessment Schedule 2.0 in Patients with Huntington’s Disease

2021 ◽  
Vol 10 (5) ◽  
pp. 1053
Author(s):  
Agnieszka Ćwirlej-Sozańska ◽  
Bernard Sozański ◽  
Mateusz Kupczyk ◽  
Justyna Leszczak ◽  
Andrzej Kwolek ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Huntington's Disease ◽  
Psychometric Properties ◽  
Huntington’S Disease ◽  
Scale Score ◽  
World Health ◽  
Disability Assessment ◽  
Whodas 2.0 ◽  
Score Reliability

Background: Huntington’s disease is a progressive neurodegenerative disorder that usually manifests in adulthood and is inherited in an autosomal dominant manner. The main aim of the study was to assess the psychometric properties of the 12-item WHO Disability Assessment Schedule (WHODAS) 2.0 in studying the level of disability in people with Huntington’s disease. Method: This is a cross-sectional study that covered 128 people with Huntington’s disease living in Poland. We examined scale score reliability, internal consistency, convergent validity, and known-group validity. The disability and quality of life of people with Huntington’s disease were also assessed. Results: The scale score reliability of the entire tool for the research group was high. The Cronbach’s α test result for the whole scale was 0.97. Cronbach’s α for individual domains ranged from 0.95 to 0.79. Time consistency for the overall result was 0.99 and for particular domains ranged from 0.91 to 0.99, which confirmed that the scale was consistent over time. All of the 12-item WHODAS 2.0 domains negatively correlated with all of the Huntington Quality of Life Instrument (H-QoL-I) domains. All correlation coefficients were statistically significant at the level of p < 0.001. The results obtained in the linear regression model showed that with each subsequent point of decrease in BMI the level of disability increases by an average of 0.83 points on the 12-item WHODAS 2.0 scale. With each subsequent year of the disease, the level of disability increases by an average of 1.39 points. Conclusions: This is the first study assessing disability by means of the WHODAS 2.0 in the HD patient population in Poland, and it is also one of the few studies evaluating the validity of the WHODAS 2.0 scale in assessing the disability of people with HD in accordance with the recommendations of DSM-5 (R). We have confirmed that the 12-item WHODAS 2.0 is an effective tool for assessing disability and changes in functioning among people with Huntington’s disease.

scholarly journals Long-Term Efficacy and Safety of Deutetrabenazine for Chorea in Huntington’s Disease: Results From the ARC-HD Open-label Study

CNS Spectrums ◽  
2021 ◽  
Vol 26 (2) ◽  
pp. 164-165
Author(s):  
Samuel Frank ◽  
Claudia M. Testa ◽  
David Stamler ◽  
Elise Kayson ◽  
David Oakes ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Rating Scale ◽  
Study Drug ◽  
Motor Dysfunction ◽  
Open Label ◽  
Entire Treatment Period ◽  
End Of Treatment ◽  
Pharmaceutical Industries

AbstractBackgroundChorea is a prominent motor dysfunction in Huntington’s disease (HD). Deutetrabenazine, a vesicular monoamine transporter 2 (VMAT2) inhibitor, is FDA-approved for the treatment of chorea in HD. In the pivotal, 12-week First-HD trial, deutetrabenazine treatment reduced the Unified Huntington’s Disease Rating Scale (UHDRS) total maximal chorea (TMC) score versus placebo. ARC-HD, an open-label extension study, evaluated long-term safety and efficacy of deutetrabenazine dosed in a response-driven manner for treatment of HD chorea.MethodsPatients who completed First-HD (Rollover) and patients who converted overnight from a stable dose of tetrabenazine (Switch) were included. Safety was assessed over the entire treatment period; exposure-adjusted incidence rates (EAIRs; adverse events [AEs] per person-year) were calculated. A stable, post-titration time point of 8 weeks was chosen for efficacy analyses.ResultsOf 119 patients enrolled (Rollover, n=82; Switch, n=37), 100 (84%) completed ≥1 year of treatment (mean [SD] follow-up, 119 [48] weeks). End of study EAIRs for patients in the Rollover and Switch cohorts, respectively, were: any AE, 2.6 and 4.3; serious AEs, 0.13 and 0.14; AEs leading to dose suspension, 0.05 and 0.04. Overall, 68% and 73% of patients in Rollover and Switch, respectively, experienced a study drug–related AE. Most common AEs possibly related to study drug were somnolence (17% Rollover; 27% Switch), depression (23%; 19%), anxiety (9%; 11%), insomnia (10%; 8%), and akathisia (9%; 14%). Rates of AEs of interest include suicidality (9%; 3%) and parkinsonism (6%; 11%). In both cohorts, mean UHDRS TMC score and total motor score (TMS) decreased from baseline to Week 8; mean (SD) change in TMC score (units) was –4.4 (3.1) and –2.1 (3.3) and change in TMS was –7.1 (7.3) and –2.4 (8.7) in Rollover and Switch, respectively. While receiving stable dosing from Week 8 to 132 (or end of treatment), patients showed minimal change in TMC score (0.9 [5.0]), but TMS increased compared to Week 8 (9.0 [11.3]). Upon drug withdrawal, there were no remarkable AEs and TMC scores increased 4.4 (3.7) units compared to end of treatment.ConclusionsThe type and severity of AEs observed in long-term deutetrabenazine exposure are consistent with the previous study. Efficacy in reducing chorea persisted over time. There was no unexpected worsening of HD or chorea associated with HD upon deutetrabenazine withdrawal.FundingTeva Pharmaceutical Industries Ltd., Petach Tikva, Israel

Validation of the first quality-of-life measurement for patients with Huntington’s disease

2012 ◽  
Vol 27 (4) ◽  
pp. 208-214 ◽  
Author(s):  
Emilie Clay ◽  
Annunziata De Nicola ◽  
Julie Dorey ◽  
Ferdinando Squitieri ◽  
Samuel Aballéa ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Life Measurement ◽  
Quality Of Life Measurement

scholarly journals Co-Design of Social Impact Domains with the Huntington’s Disease Community

Disabilities ◽  
2021 ◽  
Vol 1 (2) ◽  
pp. 116-131
Author(s):  
Natasha Layton ◽  
Natasha Brusco ◽  
Tammy Gardner ◽  
Libby Callaway
Keyword(s):  
Quality Of Life ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Design Process ◽  
Social Life ◽  
Social Inclusion ◽  
Social Impact ◽  
Service Providers ◽  
The Social

Background: For people living with or affected by Huntington’s Disease (HD) to experience a good quality of life, tailored support is required to meet physical, cognitive-behavioral, psychological, and social support needs. Substantial service and knowledge gaps regarding HD exist across support providers and service systems. Measuring unmet needs and what quality of life looks like is a fundamental step required to determine the social impact of service investment and provision. The objectives of this study were to validate and map a draft set of HD Social Impact Domains (HD-SID) against existing national and international outcome frameworks; and evaluate and finalize the HD-SID set using a co-design approach with people with lived experience of, and expertise in, HD. Methods: This research used a qualitative co-design process, with 39 participants across four stakeholder groups (people who were HD gene-positive, gene-negative family members, academics, peak organizations, and service providers) to: (i) map and verify the social life areas impacted by HD; (ii) undertake a rigorous three-phased, qualitative process to critically evaluate the draft HD-SID; and (iii) seek feedback on and endorsement of the HD-SID through this co-design process, with a final set of HD-SID identified. Results: Endorsed HD-SID comprised risks and safety (including housing stability, and economic sustainability) and social inclusion (including health and symptom management, physical wellbeing, emotional wellbeing, and building resilient relationships). Conclusions: Effective measurement of the impacts and outcomes for people with HD is informed by both extant measures and an understanding of the specific population needs. This qualitative co-design research demonstrates that HD-SID resonate with the HD community.

Health-related quality of life in Huntington's disease: A comparison of two generic instruments, SF-36 and SIP

2004 ◽  
Vol 19 (11) ◽  
pp. 1341-1348 ◽  
Author(s):  
Aileen K. Ho ◽  
Anna O.G. Robbins ◽  
Stephen J. Walters ◽  
Stephen Kaptoge ◽  
Barbara J. Sahakian ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Health Related Quality ◽  
Sf 36 ◽  
Related Quality ◽  
Health Related

scholarly journals Direct assessment of presynaptic modulation of cortico-striatal glutamate release in a Huntington’s disease mouse model

2018 ◽  
Vol 120 (6) ◽  
pp. 3077-3084 ◽  
Author(s):  
Ellen T. Koch ◽  
Cameron L. Woodard ◽  
Lynn A. Raymond
Keyword(s):  
Mouse Model ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
High Frequency ◽  
Glutamate Release ◽  
Presynaptic Receptors ◽  
High Frequency Stimulation ◽  
Presynaptic Modulation ◽  
Frequency Stimulation

Glutamate is the main excitatory neurotransmitter in the brain, and impairments in its signaling are associated with many neurological disorders, including Huntington’s disease (HD). Previous studies in HD mouse models demonstrate altered glutamate receptor distribution and signaling at cortico-striatal synapses, and some studies suggest that glutamate release is altered; however, traditional methods to study synaptic glutamate release are indirect or have poor temporal resolution. Here we utilize iGluSnFR, a modified green fluorescent protein reporter for real-time imaging of glutamate transmission, to study presynaptic modulation of cortical glutamate release in the striatum of the YAC128 HD mouse model. We determined that iGluSnFR can be used to accurately measure short- and long-term changes in glutamate release caused by modulation of extracellular Ca2+ levels, activation of presynaptic receptors, and high-frequency stimulation (HFS) protocols. We also confirmed a difference in the expression of HFS-induced long-term depression in YAC128. Together, this research demonstrates the utility of iGluSnFR in studying presynaptic modulation of glutamate release in healthy mice and disease models that display impairments in glutamate signaling. NEW & NOTEWORTHY We use iGluSnFR to directly assess presynaptic modulation of cortico-striatal glutamate release in brain slice and compare changes in glutamate release between wild type and a Huntington’s disease mouse model, YAC128. We observed reductions in glutamate release after low extracellular Ca2+ and activation of various presynaptic receptors. We also demonstrate a presynaptic mechanism of reduced glutamate release in high-frequency stimulation-induced long-term depression and show this to be altered in YAC128.

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